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Polycystic Kidney Disease

Polycystic kidney disease is an inherited disorder of the kidney.


For patients of this condition, abdominal pain  and pain in the sides is the first symptom that is noticed [7].  The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding

Other common presentations for this disease includes:

  • - headache, secondary vascular lesions of the brain, visual impairment Lower back and lower abdomen pain Recurrent infections of the kidneys and urinary tract Development of kidney stones and renal colic attacks Hematuria - blood in the urine Severe anemia[hmcisrael.com]
  • The first patient had undergone a splenectomy for anemia 2 months previously. Because there is no radical cure for CHF, and due to economic reasons, neither patient received liver transplantation.[ncbi.nlm.nih.gov]
  • Health problems that may result from PKD include: Anemia Bleeding or rupture of cysts Long-term (chronic) kidney disease End-stage kidney disease High blood pressure Infection of liver cysts Kidney stones Liver failure (mild to severe) Repeated urinary[nlm.nih.gov]
  • […] the liver Enlarged liver Heart murmurs or other signs of aortic insufficiency or mitral insufficiency High blood pressure Growths in the kidneys or abdomen Tests that may be done include: Cerebral angiography Complete blood count (CBC) to check for anemia[mountsinai.org]
  • They may initially order: a complete blood count (CBC) looking for anemia or signs of infection a urinalysis looking for blood and/or protein Your health care provider may use imaging tests to look for cysts of the kidney, liver, and other organs.[dxline.info]
Weight Loss
  • Excessive water consumption, excessive urine volume, weight loss, vomiting, lethargy, chronic and ultimately fatal renal failure[antagene.com]
  • CLINICAL PRESENTATION: We report the case of a 56-year-old woman with ADPKD and severe weight loss secondary to a giant hepatic cyst compressing the pylorus.[ncbi.nlm.nih.gov]
  • Other studies in rats ( 19 ) and mice ( 20 ) have described weight loss caused by rapamycin. Long-term treatment with rapamycin has not been reported to cause weight loss in adults or children ( 21, 22 ).[jasn.asnjournals.org]
  • When the kidneys are no longer able to remove waste from the blood, toxins build up causing symptoms such as: Not feeling well Lack of energy Nausea Vomiting Difficulty breathing Weight loss Difficulty concentrating Depression Dialysis removes excess[davita.com]
  • Weight loss. Itchy skin. Muscle cramps. Swollen feet. Puffiness around the eyes. Being pale due to anaemia. Feeling sick (nausea). As the kidney function declines from stage 4 to 5, you are likely to feel more unwell.[patient.info]
Recurrent Urinary Tract Infection
  • A 56-year-old woman with autosomal-dominant polycystic kidney disease and recurrent urinary tract infections was admitted to the hospital with suspicion of pyelonephritis.[ncbi.nlm.nih.gov]
  • He reports a history of recurrent urinary tract infections and his family history is significant for his mother who died of a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg.[smartypance.com]
  • Common symptoms include pain in the back and/or abdomen, hematuria, recurrent urinary tract infection, kidney stones, and kidney failure.[news-medical.net]
  • These include: anemia (insufficient red blood cells) bleeding or bursting of cysts high blood pressure cysts on the liver and/or liver failure kidney stones recurrent urinary tract infections (UTIs) cardiovascular disease brain aneurysms What Is the Outlook[dxline.info]
  • Frequent complications of polycystic kidney disease include dangerously high blood pressure ( hypertension ), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities.[ghr.nlm.nih.gov]
Flank Mass
  • Presenting symptoms include bilateral palpable flank masses in infants and subsequent observation of typical findings on renal ultrasound, often within the clinical context of hypertension and prenatal oligohydramnios.[mayomedicallaboratories.com]
  • masses: In advanced ADPKD Nodular hepatomegaly: In severe polycystic liver disease Rarely, symptoms related to renal failure (eg, pallor, uremic fetor, dry skin, edema) Testing Routine laboratory studies include the following: Serum chemistry profile[emedicine.medscape.com]
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019[patientslikeme.com]
  • […] symptoms of PKD include: pain or tenderness in the abdomen blood in the urine frequent urination pain in the sides urinary tract infection (UTI) kidney stones Other symptoms include: pain or heaviness in the back skin that bruises easily pale skin color fatigue[dxline.info]
  • This can cause a rising pulse rate, chest pain, fatigue, palpitations, shortness of breath and fainting.[rarediseases.org]
  • If that happens, you may have: Fatigue The need to pee often Irregular periods Nausea Shortness of breath Swollen ankles, hands, and feet Erectile dysfunction Getting a Diagnosis If your doctor thinks there’s a problem with your kidneys, she may want[webmd.com]
Abdominal Pain
  • pain as a result of enlarged kidneys.[symptoma.com]
  • We report a case of 64-year-old male with ADPKD, who required renal transplantation some years before, with recent recurrent episodes of fever and abdominal pain, who underwent 18F-FDG PET/CT twice at 18 months intervals, after not conclusive conventional[ncbi.nlm.nih.gov]
  • Polycystic kidney disease (Lecture) Presentation Lecture Pearls Diagnosis Treatment Flashcards Patient will present as a 34-year-old male with hematuria and flank/abdominal pain. He denies any recent trauma.[smartypance.com]
Abdominal Mass
  • Whenever patients present with resistant hypertension and a palpable abdominal mass, the diagnosis of ADPKD should be entertained ."[smartypance.com]
  • Symptoms usually develop between age 30 and 40 (but they can begin as early as childhood), and may include the following: Abdominal pain Detectable abdominal mass Pale color to skin Bruise easily High blood pressure Kidney stones Aneurysms (bulging of[chop.edu]
  • The diagnosis may be suspected because of enlarged, echogenic kidneys on an obstetric sonogram, on a newborn's sonogram obtained to evaluate abdominal masses or renal insufficiency, or on an older child's sonogram obtained to evaluate portal hypertension[emedicine.com]
Left Upper Quadrant Pain
  • A 42-year-old man known to have autosomal dominant polycystic kidney disease presented with sudden left-upper-quadrant pain and hypotension. Sonography performed in the emergency department showed echogenic fluid in the left upper quadrant.[emedicine.com]
  • AIMS: To study the effect of TIPSS on portal hypertension, liver and kidney function and the long term complications. MATERIALS AND METHODS: We report on 5 children with CHF treated with a TIPSS to manage severe portal hypertension related symptoms.[ncbi.nlm.nih.gov]
  • Hypertension is a common presenting feature. 10-15% of affected children are hypertensive, and 50% of affected adults have normal renal function. Hypertension is associated with left ventricular hypertrophy.[patient.info]
Mitral Valve Prolapse
  • Characterised by renal cysts, extrarenal cysts, intracranial aneurysms and dolichoectasias (elongated and distended arteries), aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias.[bestpractice.bmj.com]
  • Connective tissue findings include intracranial aneurysms, dolichoectasia, dilation of the aortic root, aortic dissections, mitral valve prolapse, and abdominal wall hernias. Fifty percent of individuals with ADPKD will develop ESRD by age 60.[ltd.aruplab.com]
  • valve prolapse left ventricular hypertrophy The diagnostic test of choice is ULTRASONOGRAPHY which shows fluid-filled cysts, CT scan will show large renal size and multiple thin-walled cysts Anemia may be noted on complete blood count Urinalysis: proteinuria[smartypance.com]
  • valve prolapse Children with autosomal recessive PKD may have symptoms such as: high blood pressure urinary tract infection (UTI) frequent urination Symptoms in children may resemble other disorders.[dxline.info]
  • ADPKD can also raise your risk for other health problems, such as: A bulge in a blood vessel of the brain, called an aneurysm Cysts on the liver and pancreas Diverticulosis Hernias Heart valve diseases such as mitral valve prolapse and aortic regurgitation[webmd.com]
  • In rarer cases, individuals may present during childhood or adulthood with hepatosplenomegaly. Of those who survive the neonatal period, one-third progress to end-stage renal disease and up to one-half develop chronic renal insufficiency.[mayomedicallaboratories.com]
  • The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen (see the images).[emedicine.com]
  • Aneurysms in the brain might cause headaches that are severe or feel different from other headaches. See a health care provider even before you take over-the-counter pain medicines for severe headaches or headaches that won’t go away.[niddk.nih.gov]
  • Headaches that are severe or that seem to feel different from other headaches might be caused by aneurysms-blood vessels that balloon out in spots-in the brain. These aneurysms could rupture, which can have severe consequences.[transplant.surgery.ucsf.edu]
  • You have a very bad headache, or you have frequent headaches. You have swelling in any part of your body. You have pain in your abdomen. You have yellowing of your eyes or skin. You see blood in your urine.[drugs.com]
Kidney Failure
  • About 50 percent of people with PKD will have kidney failure by age 60, and about 60 percent will have kidney failure by age 70. People with kidney failure will need dialysis or a kidney transplant.[kidney.org]
  • Most people with ADPKD have pain, high blood pressure, and kidney failure at some point in their lives. Kidney failure Kidney failure means your kidneys no longer work well enough to stay healthy. Untreated kidney failure can lead to coma and death.[niddk.nih.gov]
  • Half of patients develop kidney failure, on average around age 54; 23,000 were on dialysis or had a transplant for kidney failure in 2003, making it this country's fourth leading cause of kidney failure.[sciencedaily.com]
  • PKD and kidney failure Kidney failure occurs when you are left with less than 10-15% of total kidney function. When the kidneys fail, dialysis treatment or a kidney transplant is needed. Not everyone with PKD will go on to develop kidney failure.[kidney.ca]
  • Characteristic symptoms early in the process include pain, hematuria, urinary tract infection, kidney stones, and obstructive uropathy with cessation of urination. Copyright 2007. An Elsevier publication. All rights reserved.[web.archive.org]
  • Polycystic kidney disease (Lecture) Presentation Lecture Pearls Diagnosis Treatment Flashcards Patient will present as a 34-year-old male with hematuria and flank/abdominal pain. He denies any recent trauma.[smartypance.com]
  • Urinalysis detects mild proteinuria and microscopic or macroscopic hematuria. Gross hematuria may be due to a dislodged calculus or to hemorrhage from a ruptured cyst.[merckmanuals.com]
  • Small cysts in the collecting ducts of the inner kidney characterize medullary sponge kidney (MSK), which is associated with hematuria and kidney stones, but not chronic renal failure.[healthcommunities.com]
  • Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present.[aafp.org]
Flank Pain
  • The cysts replace the mass of the kidneys and reduce function leading to kidney failure "Polycystic kidney disease presents frequently with abdominal or flank pain with microscopic or gross hematuria.[smartypance.com]
  • The symptoms include abdominal or flank pain, blood in the urine (caused by blood vessels breaking in the cysts), kidney stones, and recurring bladder or kidney infections.[healthcentral.com]
  • Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria.[aafp.org]
  • Diagnosis may be suspected from one, some, or all of the following: new onset flank pain or red urine; a positive family history; palpation of enlarged kidneys on physical exam; an incidental finding on abdominal sonogram; or an incidental finding of[en.wikipedia.org]
  • At the age of 15, the patient experienced an episode of severe flank pain associated with macrohaematuria.[academic.oup.com]
Uremic Fetor
  • fetor, dry skin, edema) Testing Routine laboratory studies include the following: Serum chemistry profile, including calcium and phosphorus CBC count from cysts Urinalysis Urine culture Uric acid determination Intact PTH assay Genetic testing may be[emedicine.medscape.com]
  • Tolvaptan appears to slow increase in renal volume and decline in renal function, but it can cause adverse effects via free water diuresis (eg, thirst, polydipsia, polyuria) that can make adherence difficult.[merckmanuals.com]
  • Some of these are: hypertension, haematuria, polyuria, flank pain and tendency to recurrent urinary tract infections and kidney stones.[doi.org]
  • The tolvaptan treatment was tolerated for just 3 months before complaints about polyuria and polydipsia necessitated a break from treatment.[academic.oup.com]


The procedure of choice in dealing with cases of ADPKD is ultrasonography [8]. It is also very important when screening the family member of patients. Computed tomography (CT), magnetic resonance imaging as well as magnetic resonance angiography can also be useful in selected cases. There are other important diagnostic studies to be performed. These include:

  • Serum chemistry profile, including calcium and phosphorus
  • Complete blood cell count
  • Urinalysis
  • Urine culture
  • Uric acid determination
  • Intact parathyroid hormone assay
  • Complications: Metanephric abscesses; hypertension; berry aneurysms of Circle of Willis; nephrolithiasis; and RCC (1-5% of cases). CRF beginning at age 40-60 years. 1/2 requires dialysis by age 50. advertisement advertisement[auanet.org]
  • The pain arises as a result of hypernephroma, renal colic, nephrolithiasis, cyst enlargement and internal bleeding.[symptoma.com]
  • Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria.[aafp.org]
  • Kidney Stones (Nephrolithiasis) Individuals with ADPKD should drink plenty of water as a preventive (prophylactic) measure against the formation of kidney stones.[rarediseases.org]
  • […] caused by any of the following: Enlargement of one or more cysts Bleeding: May be confined inside the cyst or lead to gross hematuria with passage of clots or a perinephric hematoma UTI (eg, acute pyelonephritis, infected cysts, perinephric abscess) Nephrolithiasis[emedicine.medscape.com]
Multiple Renal Cysts
  • One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly.[ncbi.nlm.nih.gov]
  • Penetrance: Age-dependent; nearly all older adults develop multiple renal cysts. The average age of onset for ESRD in individuals with PKD1 and PKD2 mutations is 54 and 74 years, respectively. Cause: Pathogenic PKD1 or PKD2 gene mutations.[ltd.aruplab.com]
  • Access provided by Clinical features Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited nephropathy characterised by the age-related development of bilateral, multiple renal cysts leading to nephromegaly and renal failure ( Figure[nature.com]
  • Autosomal dominant polycystic kidney disease (ADPKD) is characterized by dysregulated tubular epithelial cell growth, resulting in the formation of multiple renal cysts and progressive renal failure.[ndt.oxfordjournals.org]
  • […] hypertrophy The diagnostic test of choice is ULTRASONOGRAPHY which shows fluid-filled cysts, CT scan will show large renal size and multiple thin-walled cysts Anemia may be noted on complete blood count Urinalysis: proteinuria, hematuria, and commonly, pyuria[smartypance.com]
  • Pyuria is common even without bacterial infection; thus diagnosis of infection should be based on culture results and clinical findings (eg, dysuria, fever, flank pain) as well as urinalysis.[merckmanuals.com]
Creatinine Increased
  • Patient one was diagnosed at 6 months, and at age 21 had a pregnancy complicated by transient worsening of renal function (creatinine increase from 1.15 to 1.78 mg/dL).[ncbi.nlm.nih.gov]


Treatment of this condition is focused on the following [9]:

In patients with ADPKD that progresses to end-stage renal disease, hemodialysis, peritoneal dialysis or renal transplantation may be required.


Prognosis in patients with ADPKD is complicated as it covers a wide spectrum [6]. Renal failure has been reported in children and on the other hand, individuals with ADPKD may also live a normal lifespan without ever knowing that they have this disorder.

In typical cases however, ADPKD brings about progressive renal dysfunction which often results in grossly enlarged kidneys and kidney failure when patients are in their 40s and 60s. The size of the polycystic kidneys and the level of glomerular infiltration share an inverse association.

According to an early study, around 70% if patients with ADPKD will develop renal insufficiency if they are able to survive to 65 years of age.


ADPKD is a hereditary disorder and as the name implies, the pattern of inheritance is autosomal-dominant [3]. Since the disorder occurs equally in both males and females, every offspring has a 50% chance of inheriting the mutation responsible for it and thus the disease.

ADPKD is a genetically heterogeneous condition which naturally involves at least 2 genes. The PKD1 is found on 16p13.3 and is responsible for most ADPKD cases. PKD2 is found on 4q21-q22 and accounts for only 15% of ADPKD cases.


In North America and Europe, ADPKD is responsible for 6-10% of end stage renal disease cases (ESRD) [4]. An approximate of 1 per 800-100 population carries a mutation for this condition.

Approximately, 85-90% of patients with ADPKD have ADPKD1 and majority of the remaining patients have ADPKD2.

The condition is slightly more severe in males than in females but this difference is not significant statistically.  The symptoms of the disorder often increase with age but children very rarely present with renal failure as a result of ADPKD.

Sex distribution
Age distribution


  • Herein we review the current understanding of the pathophysiology of these conditions, as well as the current treatments derived from our understanding of the mechanisms of these diseases.[ncbi.nlm.nih.gov]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Autosomal recessive polycystic kidney disease (ARPKD) is a disorder caused by mutations in the polycystic kidney and hepatic[mayomedicallaboratories.com]


Polycystic kidney disease can only be prevented at conception when parents with the disorder discusses with a genetic counsellor to work out the risk of passing on the disease to an offspring [10].

However, adults with the condition can take preventive measures to prevent complications that are common with this disease. One of the main ways to achieve this is by managing the blood pressure. To keep the blood pressure in check - below are some important pointers.

  • Blood pressure medications must be adhered to strictly as prescribed by the doctors.
  • Diets must be of the low salt variety and must contain lots of fruits, whole grains and vegetables.
  • A healthy weight must be maintained.
  • Smoking habit must be dropped by smokers.
  • Regular exercise (30 minutes of moderate physical activity) should be encouraged. 


Polycystic kidney disease (PCKD or PKD) is a cystic disorder of the kidney [1]. The disease is genetic.

There are two main types of PKD. The autosomal-dominant polycystic kidney disease (ADPKD), which is most popular and covered in this piece, and the rare autosomal-recessive polycystic kidney disease (ARPKD).

A common feature of PKD is the presence of multiple cysts in both kidneys. However some cases present with observable disease in only one kidney and majority of cases progress to bilateral disease well into adulthood [2]. The kidneys are enlarged in this condition because the cysts are numerous and fluid filled. Apart from the kidneys which are the primary targets, the disease can also damage the liver, pancreas and in very rare cases, the heart and brain. The two major forms of polycystic kidney diseases are distinguished by their inheritance patterns.

Patient Information

Polycystic kidney disease is an inherited condition where clusters of cysts occur in the kidney. Cysts are round sacs that contain water-like fluid. The sacs are not cancerous and can vary in size as they accumulate more fluid. They can also grow very large.

Even though the kidneys are affected most severely, polycystic kidney disease can make cysts develop in other areas of the body. The disease is known for its ability to bring about different types of complications.

Two of the most common complications of PKD are high blood pressure and kidney failure.

Polycystic kidney disease varies greatly in its severity and majority of the complications can be prevented. Lifestyle changes as well as medical treatments can easily help in the reduction of damage to the kidneys as a result of complications.

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Last updated: 2019-07-11 20:33